[Prenatal diagnosis of Beckwith-Wiedemann syndrome in third trimester]

The aim of the study was to analyze prenatally recognized cases of Beckwith-Wiedemann syndrome (BWS) and further follow-up. We report the most common features which can help in prenatal diagnosing of that condition.

3 fetuses diagnosed with BWS, referred for echocardiographic evaluation had been examined in referral centre from 2003-2005.

Mean gestational age at the diagnosis was 31 week. During ultrasound evaluation characteristic features were recognized: macrosomy, macroglossia, nephromegaly in all cases, polyhydramnion was associated in 2 cases. No congenital heart defect and any functional changes were found during ECHO. In one case prenatal karyotyping was performed and revealed normal karyotype. Postnatal karyotyping in remain two cases was normal in one and abnormal in second case (Moz 46XX (13/46XX-18, +MAR5).

1. Prenatal diagnosis of Beckwith-Wiedemann syndrome can be obtained based on characteristic ultrasound features in the third trimester. 2. Most common features of BWS diagnosed in prenatal ultrasound included: macrosomy, macroglossia, visceromegaly and polyhydramnios. 3. In utero diagnosis is important for further mode and time of delivery planning, also neonates' clinical condition directly after delivery and long-term postnatal prognosis. 4. Karyotyping is recommened in all cases of BWS.